"PreventionGenetics, part of Exact Sciences"[submitter] AND "RNF17"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038030	NM_018451.5(CENPJ):c.*9A>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	CENPJ-related disorder	GUncertain significance
Select item 881145	NM_018451.5(CENPJ):c.4016G>A (p.Ter1339=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311606	NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 158214	NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)	CENPJ, RNF17 (T1307I)	Single nucleotide variant (missense variant +1 more)	CENPJ-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 261032	NM_018451.5(CENPJ):c.3619-12G>T	CENPJ, RNF17	Single nucleotide variant (intron variant)	Seckel syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 3057596	NM_018451.5(CENPJ):c.3561C>G (p.Thr1187=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	CENPJ-related disorder	GLikely benign
Select item 158209	NM_018451.5(CENPJ):c.3367-12T>C	CENPJ, RNF17	Single nucleotide variant (intron variant)	not specified +3 more	GBenign

ClinVar